Browse Gene tests

Metabolism

Alström Disease (sequence of entire gene)

Fabry's Disease (main mutations)

Fabry's Disease (sequence of entire gene)

Familial Combined Hyperlipidemia (main LPL mutation N291S)

Familial Defective Apo B-100 (main mutation R3'500Q)

Familial Defective Apo B-100 (sequence of binding site)

Familial Dysbetalipoproteinemia (main plus additional mutations)

Familial Dysbetalipoproteinemia (sequence of binding site)

Familial Hypercholesterolemia (sequence of entire gene)

Familial Hypercholesterolemia (sequencing of mutation in relatives if known)

Familial Hypoalphalipoproteinemia (main mutations)

Familial Hypoalphalipoproteinemia (sequence of entire gene)

Familial Mediterrean Fever (main mutations)

Familial Mediterrean Fever (sequence of exons 2, 3, 5)

Glykogen Storage Disease, type 1, van Gierke (main mutations)

Hypolactasia, adult type (main mutations)

Tangier's Disease (main mutations)

Wilson's Disease (main mutation H1069Q)

Endocrinology

Multiple Endocrine Neoplasia 2A, 2B (sequence of exons 10, 11)

Diabetology

Alström Disease (sequence of entire gene)

Maturity Onset Diabetes of the Young, Type 2

Cardiology

ACE Inhibitor Efficacy (ACE, thrombophilia association marker)

Alström Disease (sequence of entire gene)

APC Resistance / Thrombophilia (F5, Leiden mutation)

Atherosclerosis Association Marker (PTHR)

Atherosclerosis Association Marker (SELP)

Atherosclerosis Association Marker, hyperhomocysteinemia (MTHFR)

Brugada Syndrome (sequence of entire gene)

Fabry's Disease (main mutations)

Fabry's Disease (sequence of entire gene)

Familial Combined Hyperlipidemia (main LPL mutation N291S)

Familial Defective Apo B-100 (main mutation R3'500Q)

Familial Defective Apo B-100 (sequence of binding site)

Familial Dysbetalipoproteinemia (main plus additional mutations)

Familial Dysbetalipoproteinemia (sequence of binding site)

Familial Hypercholesterolemia (sequence of entire gene)

Familial Hypoalphalipoproteinemia (main mutations)

Glanzmann Thrombasthenia (main mutation)

Long QT Syndrome 1 (KVLQT1, main mutations)

Long QT Syndrome 1 (KVLQT1, sequence of entire gene)

Long QT Syndrome 2 (KCNH2, main mutations)

Long QT Syndrome 2 (KCNH2, sequence of entire gene)

Long QT Syndrome 3 (SCN5A, main mutations)

Long QT Syndrome 3 (SCN5A, sequence of entire gene)

Long QT Syndrome 5 (KCNE1, main mutations)

Long QT Syndrome 5 (KCNE1, sequence of entire gene)

Long QT Syndrome 6 (KCNE2, main mutations)

Long QT Syndrome 6 (KCNE2, sequence of entire gene)

Statin Drug Efficacy (SREBF2, drug side effects)

Thrombophilia Association Marker IL4

Thrombophilia Association Marker PAI1

Angiology

Coumarine Efficacy (CAP2C9, drug side effects)

Coumarine Efficacy (VKORC1, drug side effects)

Gastroenterology

Familial Mediterrean Fever (main mutations)

Familial Mediterrean Fever (sequence of exons 2, 3, 5)

Hemochromatosis (H63D, C282Y, S65C, plus three additional mutations)

Hemochromatosis (main mutations H63D, C282Y)

Hemochromatosis (main mutations H63D, C282Y, S65C)

Hypolactasia, adult type (main mutations)

Wilson's Disease (main mutation H1069Q)

Nephrology

ACE Inhibitor Efficacy (ACE inhibitors, drug side effects)

Fabry's Disease (main mutations)

Fabry's Disease (sequence of entire gene)

Hematology

APC Resistance / Thrombophilia (F5, Leiden mutation)

Glanzmann Thrombasthenia (main mutation)

Hemochromatosis (H63D, C282Y, S65C, plus three additional mutations)

Hemochromatosis (main mutations H63D, C282Y)

Hemochromatosis (main mutations H63D, C282Y, S65C)

Homocystinuria / Hyperhomocysteinemia (main mutation)

Hyperprothrombinemia (PTH)

Thrombophilia Association Marker IL4

Thrombophilia Association Marker PAI1

Thrombophilia Association Marker SELP

Oncology

Li-Fraumeni Syndrome (sequence of exons 5,6,7)

Multiple Endocrine Neoplasia 2A, 2B (sequence of exons 10. 11)

Neurology

Alzheimer Dementia, sporadic association marker CST3

Alzheimer Dementia, sporadic association marker PS1

Alzheimer Dementia, sporadic association marker PS2

Alzheimer Dementia, sporadic, association marker A2M

Alzheimer Dementia, sporadic, association marker ACE

Alzheimer Dementia, sporadic, association marker APOE

Alzheimer Dementia, sporadic, association marker APP

Alzheimer Dementia, sporadic, association marker BCHE

Alzheimer Dementia, sporadic, association marker CSTD

Alzheimer Dementia, sporadic, association marker HFE

Alzheimer Dementia, sporadic, association marker LPL

Alzheimer Dementia, sporadic, association marker LRP

Alzheimer Dementia, sporadic, association marker MPO

CADASIL (sequence of promoter, exons 1-33)

CADASIL (sequence of exons 2, 9, 10, 19, 20)

CADASIL (sequence of exons 3, 4, 5, 6, 7, 8, 11)

CADASIL (sequence of exons 3, 4; most frequent mutations)

CADASIL (sequence of exons 5, 6, 7, 8, 11)

Familial Alzheimer Dementia, early onset, Type 1 (APP)

Familial Alzheimer Dementia, early onset, Type 3 (PS1)

Familial Alzheimer Dementia, early onset, Type 4 (PS2)

Frontotemporal Dementia, Pick disease (main mutation R370W)

Frontotemporal Dementia, Pick disease (sequence of exons 9-13)

Huntington Chorea

Multiple Sclerosis, association marker DRB1

Infectiology

Antiretroviral Treatment (HAART) (SREBF1, drug side effects)

Immunology

HLA DRB1 (sequence of exon 2)

Interleukin 4 (IL4)

Geriatry

Alzheimer Dementia, sporadic association marker CST3

Alzheimer Dementia, sporadic, association marker A2M

Alzheimer Dementia, sporadic, association marker ACE

Alzheimer Dementia, sporadic, association marker APOE

Alzheimer Dementia, sporadic, association marker BCHE

Alzheimer Dementia, sporadic, association marker CSTD

Alzheimer Dementia, sporadic, association marker HFE

Alzheimer Dementia, sporadic, association marker LPL

Alzheimer Dementia, sporadic, association marker LRP

Alzheimer Dementia, sporadic, association marker MPO

Pharmacogenetics

Antiretroviral Treatment (HAART) (SREBF1, drug side effects)

Efficacy of Alzheimer treatment, hyperlipidemia, and acne treatment, drug side effects (APOE)

Efficacy of Coumarine-Derivatives (CYP 2C9, drug side effects)

Efficacy of Coumarine-Derivatives (VKORC1, drug side effects)

Efficacy of Hyperlipidemia Treatment (ACE inhibitors, drug side effects)

Efficacy of Statins (LPL, drug side effects)

Efficacy of Statins (SREBF2, drug side effects)

Metabolism

Alström protein 1, ALMS1 (sequence of entire gene)

Apolipoprotein A1 (main mutations)

Apolipoprotein A1 (sequence of entire gene)

Apolipoprotein B-100 (main mutation R3'500Q)

Apolipoprotein B-100 (sequence of binding site)

Apolipoprotein E (main plus additional mutations)

Apolipoprotein E (sequence of binding site)

ATP-binding casette 1 (main mutations)

ATPase, Cu(2+)-transporting, beta polypeptide (main mutation H1069Q)

Galactosidase, alpha (main mutations)

Galactosidase, alpha (sequence of entire gene)

Glucose-6-phosphatase (main mutations)

Lactase Deficiency (main mutation in the promoter -13910, homozygous)

Lipoprotein lipase (main mutation N291S)

Low density lipoprotein receptor (sequence of entire gene)

Low density lipoprotein receptor (sequencing of mutation in relatives if known)

Pyrin (main mutations)

Pyrin (sequence of exons 2, 3, 5)

Endocrinology

RET transforming sequence (sequence of exons 10, 11)

Diabetology

Alström protein 1, ALMS1 (sequence of entire gene)

Glucokinase (sequence of entire gene)

Cardiology

Alström protein 1, ALMS1 (sequence of entire gene)

Angiotensin I converting enzyme (insertions/deletions polymorphism)

Apolipoprotein B-100 (main mutation R3'500Q)

Apolipoprotein B-100 (sequence of binding site)

Apolipoprotein E (main plus additional mutations)

Apolipoprotein E (sequence of binding site)

ATP-binding casette 1 (main mutations)

Coagulation factor II / prothrombin

Coagulation factor V / proaccelerin (F5, Leiden mutation)

Galactosidase, alpha (main mutations)

Galactosidase, alpha (sequence of entire gene)

Interleukin-4 (polymorphism)

Lipoprotein lipase (main mutation N291S)

Low density lipoprotein receptor (sequence of entire gene)

Methylentetrahydrofolate reductase (mutation C677T)

Plasminogen activator inhibitor 1 (insertions/deletions polymorphism)

Platelet glycoprotein IIIa / Integrin, beta (mutation L33P)

Potassium channel KCNE1 (main mutations)

Potassium channel KCNE1 (sequence of entire gene)

Potassium channel KCNE2 (main mutations)

Potassium channel KCNE2 (sequence of entire gene)

Potassium channel KCNH2 (main mutations)

Potassium channel KCNH2 (sequence of entire gene)

Potassium channel KVLQT1 (main mutations)

Potassium channel KVLQT1 (sequence of entire gene)

Selectin P (mutation V460L)

Sodium channel, type V, SCN5A Brugada (sequence entire gene)

Sodium channel, type V, SCN5A LQT (main mutations)

Sodium channel, type V, SCN5A LQT (sequence entire gene)

Sterol-regulatory element-binding protein-2

Angiology

Cytochrome P450, subfamily 2C, polypeptide 9

Vitamin K epoxide reductase complex, subunit 1

Gastroenterology

ATPase, Cu(2+)-transporting, beta polypeptide

Hereditary hemochromatosis protein (main mutations H63D, C282Y)

Hereditary hemochromatosis protein (main mutations H63D, C282Y, S65C)

Hereditary hemochromatosis protein (main plus additional mutations)

Lactase Deficiency (main mutation in the promoter -13910, homozygous)

Pyrin (main mutations)

Pyrin (sequence of exons 2, 3, 5)

Nephrology

Angiotensin I converting enzyme (insertions/deletions polymorphism)

Galactosidase, alpha (main mutations)

Galactosidase, alpha (sequence of entire gene)

Hematology

Coagulation factor II / prothrombin

Coagulation factor V / proaccelerin (F5, Leiden mutation)

Hereditary hemochromatosis protein (main mutations H63D, C282Y)

Hereditary hemochromatosis protein (main mutations H63D, C282Y, S65C)

Hereditary hemochromatosis protein (main plus additional mutations)

Interleukin-4 (association marker)

Methylentetrahydrofolate reductase (mutation C677T)

Plasminogen activator inhibitor 1 (insertions/deletions polymorphism)

Platelet glycoprotein IIIa / Integrin, beta (mutation L33P)

Selectin P (mutation V460L)

Oncology

RET transforming sequence

Tumor protein p53

Neurology

Alpha-2 macroglobulin

Amyloid beta (A4) precursor protein (association marker)

Amyloid beta (A4) precursor protein (mutation E693Q)

Angiotensin I converting enzyme (insertions/deletions polymorphism)

Apolipoprotein E (main plus additional mutations)

Butyrylcholinesterase (association marker)

Cathepsin D (lysosomal aspartyl protease)

Cystatin C (association marker)

Hereditary hemochromatosis protein (main mutations H63D, C282Y)

Huntingtin (triplett-repeat expansion)

Lipoprotein lipase (association marker)

Low density lipoprotein receptor-related protein-1 (alpha-2-Macroglobulin Receptor) (association marker)

Major histocompatibility complex, class II, DR beta-1 (association marker)

Microtubule-associated protein tau (main mutation R370W)

Microtubule-associated protein tau (sequence of exons 9-13)

Myeloperoxidase (association marker)

NOTCH3 (sequence of promoter, exons 1-23)

NOTCH3 (sequence of exons 2, 9, 10, 19, 20)

NOTCH3 (sequence of exons 3, 4, 5, 6, 7, 8, 11)

NOTCH3 (sequence of exons 3, 4; most frequent mutations)

NOTCH3 (sequence of exons 5, 6, 7, 8, 11)

Presenilin 1 (association marker)

Presenilin 1 (main mutations)

Presenilin 2 (association marker)

Presenilin 2 (main mutations)

Infectiology

Sterol-regulatory element-binding protein-1c

Immunology

Interleukin-4 (association marker)

Major histocompatibility complex, class II, DR beta-1

Geriatry

Alpha-2 macroglobulin (association marker)

Angiotensin I converting enzyme (association marker)

Apolipoprotein E (association marker)

Butyrylcholinesterase (association marker)

Cathepsin D (lysosomal aspartyl protease) (association marker)

Cystatin C (association marker)

Hereditary hemochromatosis protein (association marker)

Lipoprotein lipase (association marker)

Low density lipoprotein receptor-related protein-1 (alpha-2-Macroglobulin Receptor) (association marker)

Myeloperoxidase (association marker)

Pharmacogenetics

Angiotensin I converting enzyme

Apolipoprotein E

Cytochrome P450, subfamily 2C, polypeptide 9

Lipoprotein lipase

Sterol-regulatory element-binding Protein-1c

Sterol-regulatory element-binding Protein-2

Vitamin K epoxide reductase complex, subunit 1